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Sodium channelopathies are among the most common single-gene causes of epilepsy and have been considered model disorders for the study of genetic epilepsies. Epilepsies due to SCN8A pathogenic variants can present with a broad range of phenotypes varying from a severe epileptic encephalopathy with multiple types of drug-resistant seizure to neurodevelopmental delay, mental retardation, and electroencephalogram (EEG) findings of multifocal spike and waves (mostly in the temporal/parietal/occipital areas). In rare cases, benign familial infantile seizures and developmental delay with/without ataxia have been reported. A first-level, specific SCN8A Sanger's sequencing, although available, is rarely performed because the clinical phenotype is not strictly characteristic and several overlaps with other genetic epilepsies may occur. Given its indistinctive phenotype, diagnosis is usually performed through a specific gene panel for epileptic encephalopathies, early epilepsies, or genetic epilepsy in general, or through whole exome sequencing (WES) and more rarely through whole genome sequencing (WGS). Mutations in SCN8A occur as an autosomal dominant trait. The great majority of individuals diagnosed with SCN8A epilepsy do not have an affected parent, because usually SCN8A patients do not reproduce, and mutations are inherited as a “de novo” trait. In rare cases, SCN8A mutations may be inherited in the setting of parental germline mosaicism. SCN8A-related epilepsies have not shown a clear genotype–phenotype correlation, the same variants have been described with different clinical expressivity and this could be due to other genetic factors or to interacting environmental factors. There is no standardized treatment for SCN8A-related epilepsy because of the rarity of the disease and the unavailability of specific, targeted drugs. Treatment is based mainly on antiepileptic drugs which include classic wide-spectrum drugs such as valproic acid, levetiracetam, and lamotrigine. Sodium-channel blockers (phenytoin, carbamazepine, oxcarbazepine, and lamotrigine) have shown appreciable results in terms of seizure reduction, in particular, in patients presenting gain-of-function mutations. Nowadays, new potentially transformative gene therapy treatment approaches are currently being explored, allowing in the next future, a precision-based treatment directed against the gene defect and protein alterations.

In patients with moderate-to-severe Chronic Obstructive Pulmonary Disorder (COPD), pulmonary hyperinflation can occur at rest and increase during episodes of exacerbation. Among other mechanical constraints, changes in position and configuration of the diaphragm are also induced by increased end-expiratory lung volume. Both descent and flattening of diaphragm might damage the phrenic nerves by stretching their fibers. The study aimed to investigate the phrenic nerve conduction in COPD patients in stable conditions and during COPD exacerbation. In a group of 11 COPD patients without relevant comorbidities in stable conditions and subsequently in another group of 10 COPD patients during in-hospital COPD exacerbation and recovery, measurements of functional respiratory parameters and assessment of phrenic nerves motor conduction by bilateral electric stimulation were performed concurrently. Significant increase in phrenic nerves latency (

Bacterial colonization is a well-known phenomenon in acute care, but scant information is available regarding the rehabilitation setting. We retrospectively analyzed, in COPD patients admitted to a Respiratory Rehabilitative unit in 2010, the number of cultures requested, of positive cultures, and of cultures showing multiple drug resistant (MDR) organisms. We also compared hospital admissions (HA) with versus without positive cultures and with versus without MDR and investigated which baseline variables may predict length of stay (LOS)30 days. Of 286 COPD admissions (involving 269 patients, age 71 ± 11 years, males 66%), culture samples were requested in 62 (22%). The rate of colonization and of MDR organisms was 61 and 39%, respectively. Patients with a positive culture had a worse clinical condition and disability, and were more frequently tracheostomized, on invasive mechanical ventilation (MV) and admitted from/discharged to acute care. Patients with MDR cultures showed a lower exercise tolerance. Factors predicting LOS30 days were the presence of comorbidities, invasive MV, age65 years, and lower functional status, but not a positive culture or MDR presence. To our knowledge, this is the first real-life Italian study investigating the epidemiology of colonization and the association between colonization and LOS in a respiratory rehabilitation setting. Further investigation is necessary to clarify the relationship between colonization burden and patients' baseline clinical status and outcomes.

Background Pulmonary rehabilitation (PR) is mandatory before bronchoscopy lung volume reduction (BLVR); there is scant information about its efficacy post-BLVR. We retrospectively evaluated pulmonary function (PF) and disability in patients pre/post-BLVR and its additive effect on an intensive PR program post-BLVR vs matched non-BLVR controls. We analyzed changes within BLVR patients according to presence or not of atelectasis. Methods We compared PF and exercise tolerance (6-min walk test, 6MWT) in 39 BLVR patients (FEV1% pred. 28.9 ± 1.5; RV% pred. 236.1 ± 7.7) pre-/post-BLVR, and vs. 32 controls (FEV1% pred. 32.7 ± 1.5; RV % pred. 217.8 ± 8.3) before and after PR. Results BLVR patients showed a greater improvement than controls in PF (difference between groups: 3.8 for FEV1% pred., p = 0.043; −20.5 for RV % pred., p = 0.02) and 6MWT response rate (12/39 vs. 1/39 subjects, p = 0.003). Both groups further improved significantly 6MWT after PR without a significant difference between groups. Atelectasis after BLVR mainly accounted for the improvement in FEV1% pred, RV% pred. and 6MWT compared to both BLVR without atelectasis and controls. Conclusion BLVR improves PF (particularly RV) and exercise tolerance, patients with lobar exclusion being the best improvers. PR following BLVR yields a further improvement in exercise tolerance in both (atelectasis and non-atelectasis) subgroups.

In the group of the epidermal nevus syndromes, Happle defined in 1996 a separate entity characterized by the presence of an organoid epidermal nevus, sometimes showing sebaceous differentiation, and a speckled lentiginous nevus of the papular type, occasionally associated with extracutaneous anomalies including neurological, ophthalmological, and skeletal abnormalities. In particular, the syndrome is associated with mental retardation, epilepsy, deafness, hemiatrophy, dysesthesia, and hyperhidrosis, strabismus, lipodermoid of conjunctiva, coloboma and ptosis, and kyphosis, scoliosis, limb asymmetry, and hypertrophy. Rarely, hypertension, vascular abnormalities, atrioventricular block, hypophosphatemic rickets, and pheochromocytoma may occur. The organoid nevus follows the lines of Blaschko whereas the speckled lentiginous nevus is arranged in a checkerboard pattern. For this syndrome, the term “Phacomatosis Pigmentokeratotica” has been coined and, at the present, it is considered a very rare clinical entity, with less than 20 cases reported in the literature. Recent genetic findings have included this syndrome in the group of the mosaic RASopathies, after the discovery of mutations in the HRAS gene occurring in both sebaceous and vascular nevi, but not in nonaffected tissues.

Bronchoscopic lung volume reduction (BLVR) is a novel emphysema therapy. Whereas Pulmonary Rehabilitation (PR) is considered mandatory before BLVR, few data exist about the methods and efficacy of PR in a longer follow up period. We retrospectively evaluated short and long-term efficacy of BLVR on pulmonary function (PF) and of repeated PR programs (PRP) on disability in patients with heterogeneous emphysema undergone BLVR with one-way valves or coils. 39 patients (BTE group) undergone BLVR with one-way valves (30 pts, mean age 66.6±1.3; FEV1%pred.=29.1±1.8; RV%pred. =243.1±9.5) or with coils (9 pts, mean age=69.0±1.4; FEV1%pred.=28.2±2.7; RV%pred.=212.4±6.9) were compared to 32 controls (mean age =70.4±1.3; FEV1%pred.= 32.7±1.5; RV%pred.= 217.8±8.3). Main functional variables improved after BLVR (difference between groups: FEV1%pred.= 3.8; 95%CI 0.1 to 7.5 p=0.043; RV%pred =20.5; 95%CI 8.1 to 32.9, p=0.02) and more significantly in patients with atelectasis. Response rate of 6-MWD was greater after BLVR in the BTE group than in controls (12/39 and 1/39, p=0.003), but not after PRP (25/39 and 18/30 in BTE and controls) and mainly due to improvement in atelectasis patients. 6-MWD improvement after the first PRP was maintained at the evaluation at 1 and 2 years after PRP in the treated group and, to a greater extent, in the atelectasis group; 6-MWD improvement 3 years after PRP was still higher in the treated group than in controls (p BLVR confirmed to be effective in improving PF, particularly in reducing RV and consequently exercise tolerance. PR following BLVR further improved exercise tolerance and repeated PRPs were able to maintain the improvement of disability in treated patients.

Premesse. Il papillomavirus umano, conosciuto anche con l’acronimo HPV, e un virus a trasmissione sessuale molto frequente nella popolazione femminile e maschile. Esistono differenti genotipi di questo virus, alcuni dei quali considerati ad alto rischio oncogeno perche collegati all’insorgenza di patologie a carattere tumorale, tra le quali il carcinoma del collo dell’utero; altri, invece, sono definiti a basso rischio perche non legati a patologie oncogene, ma responsabili di lesioni cervicali, verruche e condilomi ano-genitali. L’uomo rappresenta un’importante riserva del virus e ha un ruolo significativo nella trasmissione e nella persistenza della malattia neoplastica nella donna, in particolare in rapporto al genotipo del virus infettante. Studi sperimentali dimostrano, inoltre, che l’HPV puo essere causa di infertilita alterando le caratteristiche morfologiche degli spermatozoi e pregiudicandone l’innesto all’interno dell’ovocita. L’infezione genitale da HPV nell’uomo e spesso asintomatica, non sempre le lesioni sono clinicamente evidenti, ma evidenziabili solamente con peniscopia o con indagini molecolari per la ricerca del DNA virale. L’importanza della diagnosi e del trattamento delle lesioni da HPV nell’uomo e confermata dall’evidenza che il rischio piu significativo per la neoplasia cervicale e la presenza della condilomatosi genitale nel partner maschile. Obiettivo di questo studio e stato la ricerca e la tipizzazione dell’HPV in campioni di liquido seminale provenienti da pazienti inclusi in protocolli di riproduzione assistita.